Canonical Allele Identifier: CA5077813
Community Standard Title: NM_001366145.2(TRPM3):c.4406G>T (p.Arg1469Leu)
Gene: TRPM3 HGNC NCBI
KLF9-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.70536707C>A , CM000671.2:g.70536707C>A GRCh38
NC_000009.11:g.73151623C>A , CM000671.1:g.73151623C>A GRCh37
NC_000009.10:g.72341443C>A NCBI36
NG_047197.1:g.915218G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001366145.2:c.4406G>T (TRPM3) MANE Select NP_001353074.1:p.Arg1469Leu
ENST00000677713.2:c.4406G>T (TRPM3) MANE Select ENSP00000503830.2:p.Arg1469Leu
NM_001007471.2:c.4370G>T (TRPM3) NP_001007472.2:p.Arg1457Leu
NM_001007471.3:c.4370G>T (TRPM3) NP_001007472.2:p.Arg1457Leu
NM_001007471.4:c.4370G>T (TRPM3) NP_001007472.2:p.Arg1457Leu
NM_001366141.1:c.4376G>T (TRPM3) NP_001353070.1:p.Arg1459Leu
NM_001366141.2:c.4376G>T (TRPM3) NP_001353070.1:p.Arg1459Leu
NM_001366142.1:c.3997+415G>T (TRPM3) NP_001353071.1:n.3997+415G>T
NM_001366142.2:c.3997+415G>T (TRPM3) NP_001353071.1:n.3997+415G>T
NM_001366143.1:c.3961+415G>T (TRPM3) NP_001353072.1:n.3961+415G>T
NM_001366143.2:c.3961+415G>T (TRPM3) NP_001353072.1:n.3961+415G>T
NM_001366145.1:c.4406G>T (TRPM3) NP_001353074.1:p.Arg1469Leu
NM_001366146.1:c.3991+415G>T (TRPM3) NP_001353075.1:n.3991+415G>T
NM_001366146.2:c.3991+415G>T (TRPM3) NP_001353075.1:n.3991+415G>T
NM_001366147.1:c.4481G>T (TRPM3) NP_001353076.1:p.Arg1494Leu
NM_001366147.2:c.4481G>T (TRPM3) NP_001353076.1:p.Arg1494Leu
NM_001366148.1:c.4036+415G>T (TRPM3) NP_001353077.1:n.4036+415G>T
NM_001366148.2:c.4036+415G>T (TRPM3) NP_001353077.1:n.4036+415G>T
NM_001366149.1:c.4376G>T (TRPM3) NP_001353078.1:p.Arg1459Leu
NM_001366149.2:c.4376G>T (TRPM3) NP_001353078.1:p.Arg1459Leu
NM_001366150.1:c.3925+415G>T (TRPM3) NP_001353079.1:n.3925+415G>T
NM_001366150.2:c.3925+415G>T (TRPM3) NP_001353079.1:n.3925+415G>T
NM_001366151.1:c.3955+415G>T (TRPM3) NP_001353080.1:n.3955+415G>T
NM_001366151.2:c.3955+415G>T (TRPM3) NP_001353080.1:n.3955+415G>T
NM_001366152.1:c.4066+415G>T (TRPM3) NP_001353081.1:n.4066+415G>T
NM_001366152.2:c.4066+415G>T (TRPM3) NP_001353081.1:n.4066+415G>T
NM_001366154.1:c.3532+415G>T (TRPM3) NP_001353083.1:n.3532+415G>T
NM_001366154.2:c.3532+415G>T (TRPM3) NP_001353083.1:n.3532+415G>T
NM_020952.4:c.3911G>T (TRPM3) NP_066003.3:p.Arg1304Leu
NM_020952.5:c.3911G>T (TRPM3) NP_066003.3:p.Arg1304Leu
NM_020952.6:c.3911G>T (TRPM3) NP_066003.3:p.Arg1304Leu
NM_024971.5:c.3947G>T (TRPM3) NP_079247.5:p.Arg1316Leu
NM_024971.6:c.3947G>T (TRPM3) NP_079247.5:p.Arg1316Leu
NM_024971.7:c.3947G>T (TRPM3) NP_079247.5:p.Arg1316Leu
NM_206944.3:c.3881G>T (TRPM3) NP_996827.3:p.Arg1294Leu
NM_206944.4:c.3881G>T (TRPM3) NP_996827.3:p.Arg1294Leu
NM_206944.5:c.3881G>T (TRPM3) NP_996827.3:p.Arg1294Leu
NM_206945.3:c.3917G>T (TRPM3) NP_996828.3:p.Arg1306Leu
NM_206945.4:c.3917G>T (TRPM3) NP_996828.3:p.Arg1306Leu
NM_206945.5:c.3917G>T (TRPM3) NP_996828.3:p.Arg1306Leu
NM_206946.3:c.3986G>T (TRPM3) NP_996829.3:p.Arg1329Leu
NM_206946.4:c.3986G>T (TRPM3) NP_996829.3:p.Arg1329Leu
NM_206946.5:c.3986G>T (TRPM3) NP_996829.3:p.Arg1329Leu
NM_206947.3:c.3956G>T (TRPM3) NP_996830.3:p.Arg1319Leu
NM_206947.4:c.3956G>T (TRPM3) NP_996830.3:p.Arg1319Leu
NM_206947.5:c.3956G>T (TRPM3) NP_996830.3:p.Arg1319Leu
ENST00000357533.6:c.4382G>T (TRPM3) ENSP00000350140.2:p.Arg1461Leu
ENST00000358082.7:c.3956G>T (TRPM3) ENSP00000350791.3:p.Arg1319Leu
ENST00000360823.6:c.3956G>T (TRPM3) ENSP00000354066.2:p.Arg1319Leu
ENST00000377105.5:c.3947G>T (TRPM3) ENSP00000366309.1:p.Arg1316Leu
ENST00000377110.7:c.4370G>T (TRPM3) ENSP00000366314.2:p.Arg1457Leu
ENST00000377110.9:c.4370G>T (TRPM3) ENSP00000366314.4:p.Arg1457Leu
ENST00000377111.6:c.3955+415G>T (TRPM3) ENSP00000366315.2:n.3955+415G>T
ENST00000377111.8:c.3955+415G>T (TRPM3) ENSP00000366315.4:n.3955+415G>T
ENST00000396280.9:c.3917G>T (TRPM3) ENSP00000379576.5:p.Arg1306Leu
ENST00000396285.5:c.3947G>T (TRPM3) ENSP00000379581.1:p.Arg1316Leu
ENST00000396292.8:c.3986G>T (TRPM3) ENSP00000379587.4:p.Arg1329Leu
ENST00000408909.6:c.3947G>T (TRPM3) ENSP00000386127.2:p.Arg1316Leu
ENST00000677594.1:c.3532+415G>T (TRPM3) ENSP00000504011.1:n.3532+415G>T
ENST00000704565.1:c.3966+415G>T (TRPM3) ENSP00000515942.1:n.3966+415G>T
ENST00000704566.1:c.3619+415G>T (TRPM3) ENSP00000515943.1:n.3619+415G>T
ENST00000704567.1:c.3496+415G>T (TRPM3) ENSP00000515944.1:n.3496+415G>T
ENST00000704568.1:c.4078+415G>T (TRPM3) ENSP00000515945.1:n.4078+415G>T
ENST00000704573.1:c.*169G>T (TRPM3) ENSP00000515949.1:n.*169G>T
ENST00000707140.1:c.4304G>T (TRPM3) ENSP00000516762.1:p.Arg1435Leu
XM_011519035.1:c.4487G>T (TRPM3) XP_011517337.1:p.Arg1496Leu
XM_011519036.1:c.4481G>T (TRPM3) XP_011517338.1:p.Arg1494Leu
XM_011519037.1:c.4451G>T (TRPM3) XP_011517339.1:p.Arg1484Leu
XM_011519037.3:c.4451G>T (TRPM3) XP_011517339.1:p.Arg1484Leu
XM_011519038.1:c.4445G>T (TRPM3) XP_011517340.1:p.Arg1482Leu
XM_011519038.3:c.4445G>T (TRPM3) XP_011517340.1:p.Arg1482Leu
XM_011519039.1:c.4415G>T (TRPM3) XP_011517341.1:p.Arg1472Leu
XM_011519039.3:c.4415G>T (TRPM3) XP_011517341.1:p.Arg1472Leu
XM_011519040.1:c.4412G>T (TRPM3) XP_011517342.1:p.Arg1471Leu
XM_011519040.3:c.4412G>T (TRPM3) XP_011517342.1:p.Arg1471Leu
XM_011519041.1:c.4406G>T (TRPM3) XP_011517343.1:p.Arg1469Leu
XM_011519042.1:c.4382G>T (TRPM3) XP_011517344.1:p.Arg1461Leu
XM_011519042.3:c.4382G>T (TRPM3) XP_011517344.1:p.Arg1461Leu
XM_011519043.1:c.4376G>T (TRPM3) XP_011517345.1:p.Arg1459Leu
XM_011519044.1:c.4376G>T (TRPM3) XP_011517346.1:p.Arg1459Leu
XM_011519045.1:c.4346G>T (TRPM3) XP_011517347.1:p.Arg1449Leu
XM_011519045.2:c.4346G>T (TRPM3) XP_011517347.1:p.Arg1449Leu
XM_011519046.1:c.4340G>T (TRPM3) XP_011517348.1:p.Arg1447Leu
XM_011519046.3:c.4340G>T (TRPM3) XP_011517348.1:p.Arg1447Leu
XM_011519047.1:c.3955+415G>T (TRPM3) XP_011517349.1:n.3955+415G>T
XM_017015156.1:c.3119G>T (TRPM3) XP_016870645.1:p.Arg1040Leu
XM_024447681.1:c.3089G>T (TRPM3) XP_024303449.1:p.Arg1030Leu
XM_024447682.1:c.3083G>T (TRPM3) XP_024303450.1:p.Arg1028Leu
XM_024447683.1:c.3053G>T (TRPM3) XP_024303451.1:p.Arg1018Leu
XM_024447684.1:c.2704+415G>T (TRPM3) XP_024303452.1:n.2704+415G>T
XM_024447685.1:c.2674+415G>T (TRPM3) XP_024303453.1:n.2674+415G>T
XM_024447686.1:c.2668+415G>T (TRPM3) XP_024303454.1:n.2668+415G>T
XR_001746707.2:n.985-13572C>A (KLF9-DT)
XR_001746710.2:n.908-13572C>A (KLF9-DT)
XR_001746712.1:n.819-65300C>A (KLF9-DT)
XR_001746713.1:n.256-65300C>A (KLF9-DT)
XR_001746714.1:n.194-65300C>A (KLF9-DT)
XR_001746715.2:n.214-65300C>A (KLF9-DT)
XR_002956886.1:n.908-65300C>A (KLF9-DT)
XR_002956887.1:n.984+41997C>A (KLF9-DT)
XR_929914.1:n.389-65300C>A (KLF9-DT)